nsv6137514
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 118 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nsv6137514 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 61,409,095 | 61,409,095 | + |
nsv6137514 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 130,722,089 | 130,722,089 | + |
nsv6137514 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 62,321,654 | 62,321,654 | + | ||
nsv6137514 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 131,206,634 | 131,206,634 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17682476 | interchromosomal translocation | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv17682476 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 61,409,095 | 61,409,095 | + |
nssv17682476 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 130,722,089 | 130,722,089 | + |
nssv17682476 | Submitted genomic | GRCh37 (hg19) | NC_000008.10 | Chr8 | 62,321,654 | 62,321,654 | + | ||
nssv17682476 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 131,206,634 | 131,206,634 | + |